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Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β‐thalassemia by a novel method of noninvasive prenatal testing
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-12-19 , DOI: 10.1002/pd.5879
Lin Yang 1, 2, 3 , Yujing Wu 1, 2 , Zhiyang Hu 4 , Haiping Zhang 2 , Dandan Pu 2 , Huijuan Yan 2 , Sijia Zhang 2 , Hui Jiang 2 , Qiang Liu 5 , Yuying Yuan 5 , Yanyan Zhang 2 , Fang Chen 2 , Yanping Lu 6 , Silin Pan 7 , Linhua Lin 4 , Ya Gao 2, 8
Affiliation  

The aim is to develop a novel noninvasive prenatal testing (NIPT) method that simultaneously performs fetal aneuploidy screening and the detection of de novo and paternally derived mutations.

中文翻译:

通过一种新的无创产前检测方法同时检测胎儿非整倍体、从头 FGFR3 突变和父源性β-地中海贫血

目的是开发一种新的无创产前检测 (NIPT) 方法,该方法可同时进行胎儿非整倍体筛查以及从头和父本衍生突变的检测。
更新日期:2020-12-19
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